Search Results - Lisa Pilchman

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  1. 1

    P624: First case of a FBXW11-related disorder diagnosed via prenatal whole exome sequencing by Lisa Pilchman, Beverly Coleman, Julie Moldenhauer

    Published in Genetics in Medicine Open (2023-01-01)
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  2. 2

    P623: Prenatal diagnosis of a RNU4ATAC-related disorder detected by whole genome sequencing not seen by exome sequencing on the initial proband by Lisa Pilchman, Beverly Coleman, Allan Fisher, Natasha Combs, Kendall Kaufmann, Julie Moldenhauer, Juliana Gebb

    Published in Genetics in Medicine Open (2023-01-01)
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  3. 3

    P837: Predictive outcomes of fetal micrognathia: One fetal center’s experience by Natalie Burrill, Erica Schindewolf, Lisa Pilchman, Edward Oliver, K. Taylor Wild, William Peranteau, Juliana Gebb

    Published in Genetics in Medicine Open (2025-01-01)
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  4. 4

    P823: Genetics of fetal micrognathia: One fetal center’s experience by Natalie Burrill, Erica Schindewolf, Lisa Pilchman, Edward Oliver, K. Taylor Wild, William Peranteau, Juliana Gebb

    Published in Genetics in Medicine Open (2025-01-01)
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  5. 5

    P774: Diagnosis of Au Kline syndrome in a fetus with lower urinary tract obstruction: Case report and literature review by Natalie Burrill, Nahla Khalek, Desiree Fiorentino, Beverly Coleman, Erica Schindewolf, Lisa Pilchman, Renee Wright, Haley Crane

    Published in Genetics in Medicine Open (2024-01-01)
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  6. 6

    P773: Fetus with Cole-Carpenter type 2 presenting with novel neonatal lethal skeletal dysplasia by Natalie Burrill, Christina Paidas Teefey, Renee Wright, Minh-Huy Le Huynh, Erica Schindewolf, Lisa Pilchman, Haley Crane

    Published in Genetics in Medicine Open (2024-01-01)
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  7. 7

    P859: A fetus with Diamond-Blackfan anemia and HLHS: Expanding the cardiac phenotype by Haley Crane, Lisa Pilchman, Renee Wright, Kathleen Gianforcaro, Gabrielle Eisenberg, Christina Paidas Teefey, Minh-Huy Huynh, Anita Szwast, Julie Moldenhauer

    Published in Genetics in Medicine Open (2025-01-01)
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  8. 8

    P767: Genetics of prenatally diagnosed micro/anophthalmia by Natalie Burrill, Julie Moldenhauer, Erica Schindewolf, Renee Wright, Lisa Pilchman, Haley Crane, Edward Oliver, Nahla Khalek, Juliana Gebb, Christina Paidas Teefey, Shelly Soni

    Published in Genetics in Medicine Open (2024-01-01)
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  9. 9

    P785: Milroy disease presenting as hydrops fetalis: A case series by Haley Crane, Julie Moldenhauer, Nahla Khalek, Juliana Gebb, Christina Paidas Teefey, Erica Schindewolf, Natalie Burrill, Lisa Pilchman, Renee Wright, Alexandra Borst, Michael Fox, Beverly Coleman, Shelly Soni

    Published in Genetics in Medicine Open (2024-01-01)
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  10. 10

    P399: Follow the family history: Neonatal diagnosis of YARSopathy and congenital CMV by Haley Crane, Lisa Pilchman, Renee Wright, Kathleen Gianforcaro, Gabrielle Eisenberg, Christina Paidas Teefey, Steven Horii, Cara Skraban, Alanna Strong, Matthew Demczko, Michelle Marchese, Katherine Szigety, Shelly Soni

    Published in Genetics in Medicine Open (2025-01-01)
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  11. 11

    P860: Prenatally diagnosed Beare-Stevenson cutis gyrata syndrome with a novel variant by Haley Crane, Rose Giardine, Lisa Pilchman, Renee Wright, Kathleen Gianforcaro, Gabrielle Eisenberg, Alanna Strong, K. Taylor Wild, Elaine Zackai, Lorraine Dugoff, Teresa Sparks, Beverly Coleman, Julie Moldenhauer

    Published in Genetics in Medicine Open (2025-01-01)
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  12. 12

    P828: Expanding the prenatal phenotype of MYRF-related cardiac-urogenital syndrome by Haley Crane, Renee Wright, Natalie Burrill, Lisa Pilchman, Kathleen Gianforcaro, Gabrielle Eisenberg, Shelly Soni, Christina Paidas Teefey, Serena Wu, Julie Moldenhauer, Juliana Gebb, Minh-Huy Huynh, Beverly Coleman, Jack Rychik, Nahla Khalek

    Published in Genetics in Medicine Open (2025-01-01)
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  13. 13

    P783: Two fetuses with hereditary hemorrhagic telangiectasia presenting with rare finding of arteriovenous malformations by Natalie Burrill, Christina Paidas Teefey, Nankee Kumar, Sonika Agarwal, Lauren Beslow, Edward Oliver, Minh-Huy Le Huynh, Elizabeth Goldmuntz, Bryan Pukenas, Alexandra Borst, Allison Britt, Arastoo Vossough, Stephanie Fuller, Shih-Shan Lang Chen, Erica Schindewolf, Lisa Pilchman, Renee Wright, Haley Crane

    Published in Genetics in Medicine Open (2024-01-01)
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